Results 151 to 160 of about 43,378 (245)

Secondary findings after multi-gene panel testing in 7,388 patients with suspected cancer predisposition syndrome. [PDF]

Sci Rep
Avsec E, Blatnik A, Šetrajčič Dragoš V, Škerl P, Stegel V, Krajc M.   +5 more
europepmc   +1 more source

Conservation implications of low contemporary connectivity along the Mid‐Atlantic Ridge in hydrothermal vent gastropods

Conservation Biology, Volume 40, Issue 4, August 2026.
Abstract Polymetallic sulfide deposits produced at hydrothermal vent fields are targets for mining exploitation along the Mid‐Atlantic Ridge, threatening the functioning and resilience of vent ecosystems that provide multiple ecosystem services. Knowledge about connectivity between vents will inform conservation practices.
E. Portanier, A. Tran Lu Y, F. Pradillon, C. Daguin‐Thiébaut, S. Ruault, P. Collins, E. Omnes, S. Fuchs, J. Carlsson, D. Jollivet, M. Matabos   +10 more
wiley   +1 more source

Evaluation of ERCC4 (XPF) gene rs6498486 polymorphism and its potential role in breast cancer risk among Bangladeshi women. [PDF]

BMC Cancer
Hossain I, Ivy SC, Islam MS, Shahriar M.
europepmc   +1 more source

Genetic Landscape of NAT2 in the Moroccan Population: Implications for Isoniazid Pharmacogenetics in Tuberculosis

Clinical and Translational Science, Volume 19, Issue 8, August 2026.
ABSTRACT The NAT2 gene encodes N‐acetyltransferase 2, an enzyme critically involved in the biotransformation of numerous xenobiotics and aromatic amines, including isoniazid, a cornerstone drug in tuberculosis therapy. Genetic polymorphisms in NAT2 lead to variable acetylation rates, clinically categorized as poor, intermediate, or rapid metabolizer ...
Nada Benyahya, Mohsine‐Ali El‐Hamri, Jaber Lyahyai, Ilham Ratbi, Imane Cherkaoui, Zineb Rchiad, Abdelaziz Sefiani   +6 more
wiley   +1 more source

Phenotypic dominance emerges from activity fitness functions and molecular interactions. [PDF]

Genetics
Pal T, Dibyachintan S, Cisneros AF, Landry CR.   +3 more
europepmc   +1 more source

Biomarker‐Based Diagnosis and Care Pathways for Alzheimer's Disease in the Era of Disease‐Modifying Treatments: A Consensus Statement by Belgian Experts

European Journal of Neurology, Volume 33, Issue 8, August 2026.
ABSTRACT Background The recent approval of disease‐modifying therapies (DMTs) for early Alzheimer's disease (AD) marks a major shift in clinical practice. Biomarker confirmation of amyloid pathology is now required alongside clinical assessment, and blood‐based tests are improving accessibility.
Tim Van Langenhove, Sara Van Mossevelde, Marijke Miatton, Jan De Lepeleire, Rose Bruffaerts, Jean Christophe Bier, Kurt Segers, Jurn Verschraegen, Mirko Petrovic, Manfredi Ventura, Haroun Jedidi, Ingo Beyer, Eric Mormont, Rik Vandenberghe, Aline Delva, Christian Gilles, Donatienne Van Weehaeghe, Gaëtane Picard, Peter De Deyn, Mélanie Strauss, Evert Thiery, Eric Salmon, Gert Cypers, Joris Vlaemynck, Katrin Gillis, Jan Versijpt, Maria Bjerke, Anne Sieben, Bernard Hanseeuw, Sebastiaan Engelborghs, Olivier Deryck, on behalf of the BeDeCo members   +31 more
wiley   +1 more source

Adeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI. [PDF]

PLoS One
Gilger BC, Song L, Hasegawa T, Salmon JH, Bower JJ, Vridhachalam N, Collins E, Roberts D, Bagel J, Molony C, Vite C, Hirsch ML.   +11 more
europepmc   +1 more source

Physiological and Behavioural Characterisation of a Novel Steroid Sulfatase‐Deficient Mouse

Genes, Brain and Behavior, Volume 25, Issue 4, August 2026.
STS‐deficient mice are grossly healthy and breed as expected, but are mildly hyperactive and have heavier hearts compared with sex‐matched wildtype controls. ABSTRACT Steroid sulfatase (STS) cleaves sulphate groups from steroid hormones. In humans, STS deficiency is associated with X‐linked ichthyosis, an increased predisposition to neurodevelopmental ...
Trevor Humby, Freya R. Shepherd, Talia Elgie, Libby Anderson‐Watkins, Lucy I. Beevors, Angela E. Taylor, Paul A. Foster, William Davies   +7 more
wiley   +1 more source

Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes. [PDF]

HGG Adv
Nkrumah E, Al-Mulla H, Bashar A, Soman V, Saad C, Wang J, Darabi H, Yatsenko SA, Rajkovic A, Chandran U, Mbarek H, Aarabi M.   +11 more
europepmc   +1 more source

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 747-756, August 2026.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +1 more source